R38* (p.Arg38Ter) variant of OPA1 (O60313)
R38* (p.Arg38Ter) in OPA1 (O60313) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R38* (p.Arg38Ter) variant details
- p.Arg38Ter
- rs761460379
- ClinGen CA355786522
- ClinVar RCV000992456
- ClinVar RCV001075159
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.437
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:JAPANESE population (allele frequency 1)
- Structural context available